Objective: Determine the influence of clinical symptoms on QoL in patients with Machado-Joseph disease (MJD).

Background: MJD is a rare inherited neurodegenerative disorder. Its phenotypical expression is polymorphic, with pyramidal, extrapyramidal, cerebellar, brainstem, peripheral nerve and cognitive involvement. Quality of Life (QoL) is influenced by all these domains.

Method: A longitudinal observational study was performed in 25 MJD patients in a tertiary centre. Each patient was characterized in the following domains: ataxia(SARA score), non-ataxia signs(INAS score), cognitive function(MoCA score), sleep(PSQI), depression(PHQ9), functional severity (CCFS) and QoL (ADL and EQ-5D-3L). We compared two groups over one year: 15 patients stated that their disease status remained equal(group 1) and other 10 that their disease status has worsened(group 2). Descriptive and comparative statistical analysis was performed, defining p<0.05 as statistically significant.

Results: Patients stating worsening in disease status are more depressed that patients which their disease status remained stable (p=0.0293). Using only the EQ-visual analogue scale, these patients also express that their global health status is worse comparing to those who do not perceive a change in the disease status (p=0.0322). There is a positive correlation between SARA and EQ-5D-3L (ρ=0.461,p=0.0367) and a tendency for patients with worst QoL to have more non-ataxic symptomatology (p=0.0661). Despite patient’s global opinion on worsening disease status, no differences were observed between the two groups for other clinical scales.

Conclusion: In our group, non-ataxic symptoms (especially depression) seem to negatively influence QoL. These should be thoroughly addressed in these patients with validated depression scales, and are amenable to therapeutic intervention.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/predictors-of-quality-of-life-in-machado-joseph-disease-a-longitudinal-observational-study/